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t(8;21)儿童急性髓细胞性白血病临床和生物学特征 被引量:7

Clinical and biological characteristics in childhood acute myeloid leukemia with 8;21 translocation
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摘要 目的 了解儿童 t(8;2 1)急性髓细胞白血病 (acute myeloid leukemia,AML)的临床和生物学特征。方法 对 4 1例儿童 t(8;2 1) AML 作了回顾性分析 ,取同期诊治的 19例 t(8;2 1)阴性 AML作为对照组。分析临床、形态学、染色体、免疫表型和分子生物学等资料。结果 本组 t(8;2 1) AML占同期连续的6 0例儿童急性 AML的 6 8.3% ,其中典型易位 2 9例、变异易位 2例、单纯 8q-各 2例、t(8;2 1)为特征的近四倍体 2例和隐匿易位 6例。 37例 (80 .4 % )为 M2型 AML ,大多有下述形态学改变 :白血病细胞有核凹陷、近核浅染区、胞浆嗜碱性、伴有成熟分化和核浆发育不平衡等 ;有 CD13高表达抗原 ;绘逆转录 -聚合酶链反应检测的 2 3例均检出 AML 1/ ETO融合基因转录本 ,包括正常核型的 6例 ;t(8;2 1) AML与对照组相比 ,完全缓解率差异无显著性 (82 .4 % vs 75 % ,P>0 .0 5 ) ,但复发率的差异有显著性 (10 .7% vs 4 1.7% ,P<0 .0 5 )。结论 t(8;2 1) AML 是儿童 AML中最常见的类型 ,主要和 M2型有关 ,具有独特的形态学、免疫学和临床特征。 Objective To investigate the clinical and biological characteristics of childhood acute myeloid leukemia(AML)with 8;21 translocation. Methods A retrospective analysis including clinical information, cell morphology, chromosome, immunophenotype and molecular biology was performed on 41 cases of childhood t(8;21)AML. The control group included 19 cases of AML without t(8;21) translocation detected during the same period. Results The 41 cases of t(8;21)AML accounted for 68 3% of 60 continuous childhood AML patients. Among them, classical t(8;21) translocation was seen in 29 cases; variant t(8;21) translocation, simple 8q-, near- tetraploidy characterized by the duplication of t(8;21) translocation each came into view in 2 cases; and cryptic t(8;21) translocation was seen in 6 cases. Thirty-seven cases (80.4%) belonged to M2 subtype of AML. Most of them had the morphological changes such as the leukemia cells' indent nucleus with a light stain region of perinucleus, basophilic cytoplasm, differentiation with maturation, megaloblastoid changes and nuclear-cytoplasm imbalance; the high expression of CD13 antigen; and the AML1/ETO fusion transcript in 23 cases examined by reverse transcription-polymerase chain reaction(RT-PCR) assay, including 6 cases with normal karyotype. The difference in complete remission rate between t(8;21) positive patients group and t(8;21) negative patients group was not significant in statistics (82.4% vs 75%, P>0.05). However the difference in recurring rate of the leukemia was statistically significant (10 7% vs 41.7%, P<0.05). Conclusion t(8;21)AML is the most frequent type of childhood AML. It is predominantly associated with M2 subtype of AML and has unique morphological, immunological prognostic features.
出处 《中华医学遗传学杂志》 CAS CSCD 2004年第5期512-514,共3页 Chinese Journal of Medical Genetics
关键词 急性髓细胞性白血病 t(8 21)染色体易位 儿童 免疫表型 acute myeloid leukemia 8 21 translocation AMLl/ETO fusion transcript immunophenotype reverse transcription-polymerase chain reaction
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